Fatal cell malfunction ID’d in Huntington’s disease

Researchers believe they have learned how mutations in the gene that causes Huntington’s disease kill brain cells, a finding that could open new opportunities for treating the fatal disorder. Scientists first linked the gene to the inherited disease more than 20 years ago.

Huntington’s disease affects five to seven people out of every 100,000. Symptoms, which typically begin in middle age, include involuntary jerking movements, disrupted coordination and cognitive problems such as dementia. Drugs cannot slow or stop the progressive decline caused by the disorder, which leaves patients unable to walk, talk or eat.

Lead author Hiroko Yano, PhD, of Washington University School of Medicine in St. Louis, found in mice and in mouse brain cell cultures that the disease impairs the transfer of proteins to energy-making factories inside brain cells. The factories, known as mitochondria, need these proteins to maintain their function. When disruption of the supply line disables the mitochondria, brain cells die.

“We showed the problem could be fixed by making cells overproduce the proteins that make this transfer possible,” said Yano, assistant professor of neurological surgery, neurology and genetics. “We don’t know if this will work in humans, but it’s exciting to have a solid new lead on how this condition kills brain cells.”

HPAN: A BioMed 21 IRC

The Hope Center Program on Protein Aggregation and Neurodegeneration (HPAN) is the most formalized of the Hope Center Research Groups. HPAN, led by Director David Holtzman, is one of five Interdisciplinary Research Centers (IRCs) based in the new BJC Institute of Health. This group focuses on the shared mechanism of protein aggregation that underlies numerous neurological disorders. Read more about HPAN....